Canonical Allele Identifier: CA2194549732

Gene: POLG

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89321530_89321534delinsACGGT , CM000677.2:g.89321530_89321534delinsACGGT	GRCh38
NC_000015.9:g.89864761_89864765delinsACGGT , CM000677.1:g.89864761_89864765delinsACGGT	GRCh37
NC_000015.8:g.87665765_87665769delinsACGGT	NCBI36
NG_008218.1:g.18262_18266delinsACCGT
NG_008218.2:g.18262_18266delinsACCGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.2598+202_2598+206delinsACCGT	ENSP00000516154.1:n.2598+202_2598+206delinsACCGT
ENST00000268124.11:c.2598+202_2598+206delinsACCGT MANE Select	ENSP00000268124.5:n.2598+202_2598+206delinsACCGT
ENST00000530292.3:c.2199+202_2199+206delinsACCGT	ENSP00000432885.2:n.2199+202_2199+206delinsACCGT
ENST00000635986.2:c.2598+202_2598+206delinsACCGT	ENSP00000490653.2:n.2598+202_2598+206delinsACCGT
ENST00000636774.1:c.*1165+202_*1165+206delinsACCGT	ENSP00000489799.1:n.*1165+202_*1165+206delinsACCGT
ENST00000637238.1:c.1295+202_1295+206delinsACCGT	ENSP00000490756.1:n.1295+202_1295+206delinsACCGT
ENST00000637264.1:c.1670+202_1670+206delinsACCGT
ENST00000666746.1:c.2175+202_2175+206delinsACCGT
ENST00000670281.1:c.800+428_800+432delinsACCGT	ENSP00000499709.1:n.800+428_800+432delinsACCGT
ENST00000672071.1:n.2796+202_2796+206delinsACCGT
ENST00000672923.2:n.2540+202_2540+206delinsACCGT
ENST00000268124.9:c.2598+202_2598+206delinsACCGT	ENSP00000268124.5:n.2598+202_2598+206delinsACCGT
ENST00000442287.6:c.2598+202_2598+206delinsACCGT	ENSP00000399851.2:n.2598+202_2598+206delinsACCGT
ENST00000528881.2:c.196-274_196-270delinsACCGT
ENST00000530715.5:c.186-665_186-661delinsACCGT	ENSP00000431395.1:n.186-665_186-661delinsACCGT
ENST00000631044.2:c.*2022+202_*2022+206delinsACCGT	ENSP00000486730.1:n.*2022+202_*2022+206delinsACCGT
NM_001126131.1:c.2598+202_2598+206delinsACCGT	NP_001119603.1:n.2598+202_2598+206delinsACCGT
NM_002693.2:c.2598+202_2598+206delinsACCGT	NP_002684.1:n.2598+202_2598+206delinsACCGT
NM_001126131.2:c.2598+202_2598+206delinsACCGT	NP_001119603.1:n.2598+202_2598+206delinsACCGT
NM_002693.3:c.2598+202_2598+206delinsACCGT MANE Select	NP_002684.1:n.2598+202_2598+206delinsACCGT